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在完全的雄激素不敏感综合征中,分子发病,诊断和管理挑战

Chunqing Wang¹, Qinjie Tian²

¹Department of Ultrasound, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

Frontiers in endocrinology

|October 30, 2025

概括

完整的雄激素不敏感综合征 (CAIS) 是一种罕见的遗传疾病,导致男性染色体的个体由于雄激素受体缺陷而发展出女性的身体特征. 由于非典型的症状和潜在的淋巴腺瘤,诊断和管理具有挑战性.

科学领域:

内分泌学在内分泌学.
遗传学是一个遗传学.
生殖医学生殖医学

背景情况:

完全雄激素不敏感综合征 (CAIS) 是一种罕见的X相关性性发育障碍 (DSD),由雄激素受体 (AR) 基因突变引起.
患有CAIS的个体具有男性型 (XY),但由于抗雄激素耐药性,他们会发展出女性表型.
关键特征包括丸产生雄激素和AMH,导致穆勒尔管道的回归和未下降的丸.

研究的目的:

提供关于CAIS分子病变发生,病理生理学,诊断评估,差异诊断和管理的全面概述.
突出与这种罕见疾病相关的诊断和管理挑战.
为临床医生和研究人员提供关于CAIS最新理解的信息.

主要方法:

对CAIS现有文献的审查,包括分子病原,临床表现和诊断标准.
对内分泌荷尔蒙检测,染色体胆型定型,盆腔成像和AR基因检测的分析.
讨论对原发性缺血症和其他DDS的差异诊断.

主要成果:

CAIS呈现出典型的女性表型,初级异常流产,不孕症,以及增加淋巴腺瘤的风险.
内分泌学测试显示 (T) 和LH正常/升高,FSH正常.
最终的诊断依赖于AR基因测试或结合能力,以及临床和成像数据.

结论:

由于罕见,非典型的表现和可能发生淋巴细胞恶性病变,CAIS的诊断和管理是复杂的.
涉及内分泌学,遗传学,手术和心理支持的多学科方法至关重要.
持续的研究和提高临床意识对于改善患者的治疗结果至关重要.

关键词:

受体受体是受体的受体.完全的雄激素不敏感综合征.性发育障碍性发育障碍发生性腺发展.性别分配的性别分配性别的确定性性别的确定性性差异化性别差异化

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